Canonical Allele Identifier: CA304868959
Community Standard Title: NM_000208.4(INSR):c.3660-273_3660-272del
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7119861_7119862del , CM000681.2:g.7119861_7119862del GRCh38
NC_000019.9:g.7119872_7119873del , CM000681.1:g.7119872_7119873del GRCh37
NC_000019.8:g.7070872_7070873del NCBI36
NG_008852.2:g.179145_179146del

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.3660-273_3660-272del MANE Select NP_000199.2:n.3660-273_3660-272del
ENST00000302850.10:c.3660-273_3660-272del MANE Select ENSP00000303830.4:n.3660-273_3660-272del
NM_000208.2:c.3660-273_3660-272del NP_000199.2:n.3660-273_3660-272del
NM_000208.3:c.3660-273_3660-272del NP_000199.2:n.3660-273_3660-272del
NM_001079817.1:c.3624-273_3624-272del NP_001073285.1:n.3624-273_3624-272del
NM_001079817.2:c.3624-273_3624-272del NP_001073285.1:n.3624-273_3624-272del
NM_001079817.3:c.3624-273_3624-272del NP_001073285.1:n.3624-273_3624-272del
ENST00000302850.9:c.3660-273_3660-272del ENSP00000303830.4:n.3660-273_3660-272del
ENST00000341500.9:c.3624-273_3624-272del ENSP00000342838.4:n.3624-273_3624-272del
XM_011527988.1:c.3735-273_3735-272del XP_011526290.1:n.3735-273_3735-272del
XM_011527988.2:c.3657-273_3657-272del XP_011526290.2:n.3657-273_3657-272del
XM_011527989.1:c.3699-273_3699-272del XP_011526291.1:n.3699-273_3699-272del
XM_011527989.3:c.3621-273_3621-272del XP_011526291.2:n.3621-273_3621-272del